Incidental Mutation 'R6683:Lkaaear1'
| ID |
527567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lkaaear1
|
| Ensembl Gene |
ENSMUSG00000045794 |
| Gene Name |
LKAAEAR motif containing 1 (IKAAEAR murine motif) |
| Synonyms |
4930526D03Rik, LOC277496 |
| MMRRC Submission |
044802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
R6683 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181338586-181340235 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG to TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG
at 181339354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002532]
[ENSMUST00000052416]
[ENSMUST00000108769]
[ENSMUST00000108771]
[ENSMUST00000108772]
[ENSMUST00000108776]
[ENSMUST00000108779]
|
| AlphaFold |
Q8BIG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002532
|
| SMART Domains |
Protein: ENSMUSP00000002532
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052416
|
| SMART Domains |
Protein: ENSMUSP00000061134
Gene: ENSMUSG00000045794
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
Pfam:LKAAEAR
|
44 |
179 |
1.4e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108769
|
| SMART Domains |
Protein: ENSMUSP00000104400
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
Pfam:RGS
|
90 |
160 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108771
|
| SMART Domains |
Protein: ENSMUSP00000104402
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108772
|
| SMART Domains |
Protein: ENSMUSP00000104403
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
29 |
N/A |
INTRINSIC |
|
RGS
|
68 |
184 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108776
|
| SMART Domains |
Protein: ENSMUSP00000104406
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
RGS
|
90 |
206 |
2.73e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108779
|
| SMART Domains |
Protein: ENSMUSP00000104409
Gene: ENSMUSG00000002458
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132409
|
| SMART Domains |
Protein: ENSMUSP00000116083
Gene: ENSMUSG00000045794
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LKAAEAR
|
1 |
91 |
7.2e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124776
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143510
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
C |
1: 74,321,604 (GRCm39) |
E169G |
possibly damaging |
Het |
| Acat2 |
G |
A |
17: 13,162,814 (GRCm39) |
R377C |
probably benign |
Het |
| Adgrg6 |
A |
G |
10: 14,331,911 (GRCm39) |
V398A |
probably damaging |
Het |
| BC025920 |
A |
G |
10: 81,445,135 (GRCm39) |
H86R |
probably damaging |
Het |
| BC028528 |
T |
C |
3: 95,795,539 (GRCm39) |
T88A |
probably damaging |
Het |
| Creb3l4 |
T |
A |
3: 90,145,112 (GRCm39) |
T347S |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,397,048 (GRCm39) |
V180A |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,777,015 (GRCm39) |
V273A |
probably damaging |
Het |
| Hdgfl3 |
G |
A |
7: 81,550,101 (GRCm39) |
R78W |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,906,439 (GRCm39) |
T357A |
probably benign |
Het |
| Ly6d |
A |
T |
15: 74,634,299 (GRCm39) |
V97D |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,711,062 (GRCm39) |
I115T |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,214 (GRCm39) |
V173I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,608,338 (GRCm39) |
S327P |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,647,717 (GRCm39) |
R20G |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,009 (GRCm39) |
T83I |
probably benign |
Het |
| Nploc4 |
A |
G |
11: 120,274,156 (GRCm39) |
S546P |
probably damaging |
Het |
| Or1e1d-ps1 |
A |
G |
11: 73,818,939 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or51g2 |
C |
T |
7: 102,622,920 (GRCm39) |
R93Q |
probably benign |
Het |
| Or52e8 |
C |
T |
7: 104,625,175 (GRCm39) |
V10I |
probably benign |
Het |
| Or5b21 |
A |
G |
19: 12,840,014 (GRCm39) |
S292G |
probably damaging |
Het |
| Panx1 |
T |
C |
9: 14,919,307 (GRCm39) |
E184G |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,655,047 (GRCm39) |
Y1808C |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 134,628,513 (GRCm39) |
S21C |
probably benign |
Het |
| Ppil6 |
A |
G |
10: 41,374,427 (GRCm39) |
N103D |
probably benign |
Het |
| Pth1r |
C |
T |
9: 110,556,319 (GRCm39) |
|
probably null |
Het |
| Rapgef4 |
A |
T |
2: 71,885,123 (GRCm39) |
|
probably benign |
Het |
| Rlf |
A |
G |
4: 121,005,123 (GRCm39) |
S1286P |
probably damaging |
Het |
| Rnf217 |
A |
G |
10: 31,410,822 (GRCm39) |
V291A |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,896 (GRCm39) |
M117T |
probably benign |
Het |
| St8sia4 |
T |
C |
1: 95,581,424 (GRCm39) |
D106G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,098,207 (GRCm39) |
I485T |
probably damaging |
Het |
| Trdc |
T |
C |
14: 54,381,692 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,541,004 (GRCm39) |
L33994P |
probably damaging |
Het |
| Vmn2r42 |
T |
A |
7: 8,187,224 (GRCm39) |
K799N |
probably damaging |
Het |
| Zfp42 |
G |
A |
8: 43,749,093 (GRCm39) |
T136M |
possibly damaging |
Het |
| Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
probably benign |
Het |
|
| Other mutations in Lkaaear1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Lkaaear1
|
APN |
2 |
181,339,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01508:Lkaaear1
|
APN |
2 |
181,338,830 (GRCm39) |
missense |
probably benign |
0.09 |
|
FR4304:Lkaaear1
|
UTSW |
2 |
181,339,372 (GRCm39) |
unclassified |
probably benign |
|
|
FR4340:Lkaaear1
|
UTSW |
2 |
181,339,387 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Lkaaear1
|
UTSW |
2 |
181,339,364 (GRCm39) |
unclassified |
probably benign |
|
|
R3430:Lkaaear1
|
UTSW |
2 |
181,339,324 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4994:Lkaaear1
|
UTSW |
2 |
181,339,376 (GRCm39) |
nonsense |
probably null |
|
|
R6684:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
|
R6685:Lkaaear1
|
UTSW |
2 |
181,339,354 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Lkaaear1
|
UTSW |
2 |
181,339,370 (GRCm39) |
unclassified |
probably benign |
|
|
RF007:Lkaaear1
|
UTSW |
2 |
181,339,352 (GRCm39) |
unclassified |
probably benign |
|
|
RF022:Lkaaear1
|
UTSW |
2 |
181,339,370 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Lkaaear1
|
UTSW |
2 |
181,339,372 (GRCm39) |
unclassified |
probably benign |
|
|
RF033:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
|
RF036:Lkaaear1
|
UTSW |
2 |
181,339,381 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Lkaaear1
|
UTSW |
2 |
181,339,367 (GRCm39) |
unclassified |
probably benign |
|
|
RF052:Lkaaear1
|
UTSW |
2 |
181,339,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCGTAGGGTAACTCCACCG -3'
(R):5'- GATATGCACAGGGTCAGCTAC -3'
Sequencing Primer
(F):5'- TAGGGTAACTCCACCGACTCG -3'
(R):5'- TTAGGTGGCTACAGGAAGTCCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation